Y57H (p.Tyr57His) variant of CSRP3 (P50461)
Y57H (p.Tyr57His) in CSRP3 (P50461) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Dilated cardiomyopathy 1M; Hypertrophic cardiomyopathy 12. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
Y57H (p.Tyr57His) variant details
- p.Tyr57His
- ESP rs374764059
- ExAC rs374764059
- TOPMed rs374764059
- gnomAD rs374764059
- Uncertain significance
- Dilated cardiomyopathy 1M; Hypertrophic cardiomyopathy 12
- Missense
- Variant Prioritization Score for Impact Estimate 0.726
- REVEL 0.81
- CADD 24.30
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1M; Hypertrophic cardiomyopathy 12)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available